289 related articles for article (PubMed ID: 17186461)
21. Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y; Bagyinszky E; An SSA
Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176125
[TBL] [Abstract][Full Text] [Related]
22. PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca
Fedeli C; Filadi R; Rossi A; Mammucari C; Pizzo P
Autophagy; 2019 Dec; 15(12):2044-2062. PubMed ID: 30892128
[TBL] [Abstract][Full Text] [Related]
23. Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.
Li XY; Cui Y; Jing D; Xie K; Zhong X; Kong Y; Wang Y; Chu M; Wang C; Wu L
Alzheimer Dis Assoc Disord; 2021 Jul-Sep 01; 35(3):208-213. PubMed ID: 33973882
[TBL] [Abstract][Full Text] [Related]
24. Establishment of induced pluripotent stem cell line (ZZUi010-A) from an Alzheimer's disease patient carrying an APP gene mutation.
Wang Z; Zhang P; Wang Y; Shi C; Jing N; Sun H; Yang J; Liu Y; Wen X; Zhang J; Zhang S; Xu Y
Stem Cell Res; 2017 Dec; 25():213-216. PubMed ID: 29156377
[TBL] [Abstract][Full Text] [Related]
25. Discovery and validation of autosomal dominant Alzheimer's disease mutations.
Hsu S; Gordon BA; Hornbeck R; Norton JB; Levitch D; Louden A; Ziegemeier E; Laforce R; Chhatwal J; Day GS; McDade E; Morris JC; Fagan AM; Benzinger TLS; Goate AM; Cruchaga C; Bateman RJ; ; Karch CM
Alzheimers Res Ther; 2018 Jul; 10(1):67. PubMed ID: 30021643
[TBL] [Abstract][Full Text] [Related]
26. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
Ezquerra M; Lleó A; Castellví M; Queralt R; Santacruz P; Pastor P; Molinuevo JL; Blesa R; Oliva R
Arch Neurol; 2003 Aug; 60(8):1149-51. PubMed ID: 12925374
[TBL] [Abstract][Full Text] [Related]
27. Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B; Tang B; Liu X; Xu J; Wang Y; Zhou L; Zhang F; Yan X; Zhou Y; Shen L
Neurobiol Aging; 2014 Aug; 35(8):1957.e1-6. PubMed ID: 24650794
[TBL] [Abstract][Full Text] [Related]
28. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.
Yagi R; Miyamoto R; Morino H; Izumi Y; Kuramochi M; Kurashige T; Maruyama H; Mizuno N; Kurihara H; Kawakami H
Neurobiol Aging; 2014 Jul; 35(7):1780.e1-5. PubMed ID: 24559647
[TBL] [Abstract][Full Text] [Related]
29. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
Arango D; Cruts M; Torres O; Backhovens H; Serrano ML; Villareal E; Montañes P; Matallana D; Cano C; Van Broeckhoven C; Jacquier M
Am J Med Genet; 2001 Oct; 103(2):138-43. PubMed ID: 11568920
[TBL] [Abstract][Full Text] [Related]
30. Prevalence and spectrum of LRRC10 mutations associated with idiopathic dilated cardiomyopathy.
Qu XK; Yuan F; Li RG; Xu L; Jing WF; Liu H; Xu YJ; Zhang M; Liu X; Fang WY; Yang YQ; Qiu XB
Mol Med Rep; 2015 Sep; 12(3):3718-3724. PubMed ID: 26017719
[TBL] [Abstract][Full Text] [Related]
31. Molecular genetic analysis of the APP, PSEN1, and PSEN2 genes in Finnish patients with early-onset Alzheimer disease and frontotemporal lobar degeneration.
Krüger J; Moilanen V; Majamaa K; Remes AM
Alzheimer Dis Assoc Disord; 2012; 26(3):272-6. PubMed ID: 21959359
[TBL] [Abstract][Full Text] [Related]
32. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing.
Jiang B; Zhou J; Li HL; Chen YG; Cheng HR; Ye LQ; Liu DS; Chen DF; Tao QQ; Wu ZY
Neurobiol Aging; 2019 Apr; 76():215.e15-215.e21. PubMed ID: 30598257
[TBL] [Abstract][Full Text] [Related]
33. Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.
Tedde A; Bartoli A; Piaceri I; Ferrara S; Bagnoli S; Serio A; Sorbi S; Nacmias B
Neurosci Lett; 2016 Jan; 610():150-3. PubMed ID: 26549787
[TBL] [Abstract][Full Text] [Related]
34. A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.
An SS; Park SA; Bagyinszky E; Bae SO; Kim YJ; Im JY; Park KW; Park KH; Kim EJ; Jeong JH; Kim JH; Han HJ; Choi SH; Kim S
Clin Interv Aging; 2016; 11():1817-1822. PubMed ID: 28008242
[TBL] [Abstract][Full Text] [Related]
35. Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC; Beck JA; Campbell TA; Dickinson A; Fox NC; Harvey RJ; Houlden H; Rossor MN; Collinge J
Neurology; 2003 Jan; 60(2):235-9. PubMed ID: 12552037
[TBL] [Abstract][Full Text] [Related]
36. Novel mutations and repeated findings of mutations in familial Alzheimer disease.
Finckh U; Kuschel C; Anagnostouli M; Patsouris E; Pantes GV; Gatzonis S; Kapaki E; Davaki P; Lamszus K; Stavrou D; Gal A
Neurogenetics; 2005 May; 6(2):85-9. PubMed ID: 15776278
[TBL] [Abstract][Full Text] [Related]
37. A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.
Thomas Q; Nambot S; Béjot Y; Philippe C; Faivre L; Duffourd Y; Thauvin-Robinet C; Dupont G
Alzheimer Dis Assoc Disord; 2023 Jan-Mar 01; 37(1):82-84. PubMed ID: 35383591
[TBL] [Abstract][Full Text] [Related]
38. A pathogenic
Giau VV; Pyun JM; Bagyinszky E; An SSA; Kim S
Clin Interv Aging; 2018; 13():1321-1329. PubMed ID: 30104866
[TBL] [Abstract][Full Text] [Related]
39. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM; Hernández D; Wang JC; Marsh J; Hewitt AW; Hsu S; Norton J; Levitch D; Donahue T; Sigurdson W; Ghetti B; Farlow M; Chhatwal J; Berman S; Cruchaga C; Morris JC; Bateman RJ; ; Pébay A; Goate AM
Alzheimers Res Ther; 2018 Jul; 10(1):69. PubMed ID: 30045758
[TBL] [Abstract][Full Text] [Related]
40. Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.
Qiu Q; Jia L; Wang Q; Zhao L; Jin H; Li T; Quan M; Xu L; Li B; Li Y; Jia J
Neurobiol Aging; 2020 Jan; 85():155.e1-155.e4. PubMed ID: 31235344
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
